GenTIGS

List of monogenic disorders and their associated genes
Monogenic disorders arise from mutations in a single gene, but variations within that gene or in multiple genes can also lead to similar phenotypes, typically following Mendelian inheritance patterns associated with specific genetic changes.

View information by inheritance mode

S.No.	Genetic Disorders Modes of inheritance	Category	Gene symbol	Indian context	Links
111	Deficiency of guanidinoacetate methyltransferase Autosomal recessive	Metabolic disorders	GAMT guanidinoacetate N-methyltransferase	Reports Updated as of Feb 20, 2024	PubMed
112	Deficiency of hyaluronoglucosaminidase Autosomal recessive	Metabolic disorders/Lysosomal storage disorders	HYAL1 hyaluronidase 1	Reports Updated as of Feb 01, 2025	PubMed
113	Dentinogenesis imperfecta type 2 Autosomal dominant	Oral disorders	DSPP dentin sialophosphoprotein	Reports Updated as of Sep 15, 2022	PubMed
114	Desmoid disease	Cancer disorders	APC APC regulator of WNT signaling pathway	Reports Updated as of Dec 29, 2023	PubMed
115	Diastrophic dysplasia Autosomal recessive	Bone disorders	SLC26A2 solute carrier family 26 member 2	Reports Updated as of Sep 15, 2022	PubMed
116	Dicarboxylic aminoaciduria Autosomal recessive	Metabolic disorders	SLC1A1 solute carrier family 1 member 1	Reports Updated as of Dec 29, 2023	PubMed
117	Distal arthrogryposis type 5D Autosomal recessive	Neuromuscular disorders	ECEL1 endothelin converting enzyme like 1	Reports Updated as of Feb 01, 2025	PubMed
118	Doyne honeycomb retinal dystrophy Autosomal dominant	Eye disorders	EFEMP1 EGF containing fibulin extracellular matrix protein 1	Reports Updated as of Dec 07, 2023	PubMed
119	Dubowitz syndrome Autosomal recessive	Skin disorders	NSUN2 NOP2/Sun RNA methyltransferase 2	Reports Updated as of Dec 29, 2023	PubMed
120	Duchenne muscular dystrophy X-linked dominant	Neuromuscular disorders	DMD dystrophin	Reports Updated as of Sep 15, 2022	PubMed

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